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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
1999 2
2000 3
2002 2
2004 1
2005 2
2006 5
2007 4
2008 3
2009 4
2010 1
2011 5
2012 5
2013 3
2014 3
2015 9
2016 6
2017 5
2018 1
2019 3
2020 2
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64 results
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Page 1
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Mefford HC, Sol-Church K. LaCroix AJ, et al. Among authors: sol church k. Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13. Am J Hum Genet. 2019. PMID: 30554721 Free PMC article.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Niceta M, et al. Among authors: sol church k. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865493 Free PMC article.
Mycobacterium avium Complex Diversity within Lung Disease, as Revealed by Whole-Genome Sequencing.
Operario DJ, Pholwat S, Koeppel AF, Prorock A, Bao Y, Sol-Church K, Scheurenbrand M, Poulter M, Turner S, Parikh HI, Mathers A, Houpt ER. Operario DJ, et al. Among authors: sol church k. Am J Respir Crit Care Med. 2019 Aug 1;200(3):393-396. doi: 10.1164/rccm.201903-0669LE. Am J Respir Crit Care Med. 2019. PMID: 30965019 Free PMC article. No abstract available.
Survey on Scientific Shared Resource Rigor and Reproducibility.
Knudtson KL, Carnahan RH, Hegstad-Davies RL, Fisher NC, Hicks B, Lopez PA, Meyn SM, Mische SM, Weis-Garcia F, White LD, Sol-Church K. Knudtson KL, et al. Among authors: sol church k. J Biomol Tech. 2019 Sep;30(3):36-44. doi: 10.7171/jbt.19-3003-001. J Biomol Tech. 2019. PMID: 31452645 Free PMC article.
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS. Wang Y, et al. Among authors: sol church k. BMC Urol. 2016 Oct 21;16(1):62. doi: 10.1186/s12894-016-0180-4. BMC Urol. 2016. PMID: 27769252 Free PMC article.
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.
Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER. Stabley DL, et al. Among authors: sol church k. Neuromuscul Disord. 2017 May;27(5):439-446. doi: 10.1016/j.nmd.2017.02.002. Epub 2017 Feb 6. Neuromuscul Disord. 2017. PMID: 28284873 Free PMC article.
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Bertola D, Buscarilli M, Stabley DL, Baker L, Doyle D, Bartholomew DW, Sol-Church K, Gripp KW. Bertola D, et al. Among authors: sol church k. Am J Med Genet A. 2017 May;173(5):1309-1318. doi: 10.1002/ajmg.a.38178. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371260 Free PMC article.
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.
Cartledge DM, Robbins KM, Drake KM, Sternberg R, Stabley DL, Gripp KW, Kolb EA, Sol-Church K, Napper AD. Cartledge DM, et al. Among authors: sol church k. Front Oncol. 2017 Apr 3;7:42. doi: 10.3389/fonc.2017.00042. eCollection 2017. Front Oncol. 2017. PMID: 28421158 Free PMC article.
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ. Higgins EM, et al. Among authors: sol church k. JCI Insight. 2017 Mar 9;2(5):e91225. doi: 10.1172/jci.insight.91225. JCI Insight. 2017. PMID: 28289718 Free PMC article.
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
Schwartz DD, Katzenstein JM, Highley EJ, Stabley DL, Sol-Church K, Gripp KW, Axelrad ME. Schwartz DD, et al. Among authors: sol church k. Am J Med Genet A. 2017 May;173(5):1294-1300. doi: 10.1002/ajmg.a.38174. Epub 2017 Apr 4. Am J Med Genet A. 2017. PMID: 28374929 Free PMC article.
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